Incidental Mutation 'R8150:Pld3'
ID 632905
Institutional Source Beutler Lab
Gene Symbol Pld3
Ensembl Gene ENSMUSG00000003363
Gene Name phospholipase D family member 3
Synonyms Sam-9
MMRRC Submission 067576-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8150 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 27231425-27252643 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27232086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 398 (V398A)
Ref Sequence ENSEMBL: ENSMUSP00000113820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037134] [ENSMUST00000108353] [ENSMUST00000117095] [ENSMUST00000117611]
AlphaFold O35405
Predicted Effect probably benign
Transcript: ENSMUST00000037134
SMART Domains Protein: ENSMUSP00000043175
Gene: ENSMUSG00000040424

DomainStartEndE-ValueType
SCOP:d1howa_ 1 142 8e-12 SMART
Blast:S_TKc 1 143 8e-99 BLAST
PDB:3ANR|D 1 155 1e-12 PDB
low complexity region 192 206 N/A INTRINSIC
low complexity region 389 399 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108353
SMART Domains Protein: ENSMUSP00000103990
Gene: ENSMUSG00000040424

DomainStartEndE-ValueType
S_TKc 11 347 9.31e-74 SMART
low complexity region 396 410 N/A INTRINSIC
low complexity region 593 603 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117095
AA Change: V398A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113820
Gene: ENSMUSG00000003363
AA Change: V398A

DomainStartEndE-ValueType
low complexity region 25 36 N/A INTRINSIC
transmembrane domain 38 60 N/A INTRINSIC
PLDc 194 221 9.25e-10 SMART
Pfam:PLDc_3 224 401 1.6e-43 PFAM
PLDc 409 435 1.19e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117611
AA Change: V398A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112942
Gene: ENSMUSG00000003363
AA Change: V398A

DomainStartEndE-ValueType
low complexity region 25 36 N/A INTRINSIC
transmembrane domain 38 60 N/A INTRINSIC
PLDc 194 221 9.25e-10 SMART
low complexity region 285 297 N/A INTRINSIC
PLDc 409 435 1.19e-3 SMART
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 98.5%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phospholipase D (PLD) family of enzymes that catalyze the hydrolysis of membrane phospholipids. The encoded protein is a single-pass type II membrane protein and contains two PLD phosphodiesterase domains. This protein influences processing of amyloid-beta precursor protein. Mutations in this gene are associated with Alzheimer disease risk. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2014]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik T A 2: 19,538,635 (GRCm39) M129L probably benign Het
Aadacl2fm1 A G 3: 59,843,558 (GRCm39) D84G probably damaging Het
Abca2 T C 2: 25,337,393 (GRCm39) I2416T probably damaging Het
Abca3 A G 17: 24,615,522 (GRCm39) D871G probably benign Het
Akap9 C T 5: 4,011,982 (GRCm39) T895I probably damaging Het
Aldh8a1 A G 10: 21,271,444 (GRCm39) E390G probably damaging Het
Ank2 T A 3: 126,741,162 (GRCm39) D1574V Het
Blmh T C 11: 76,859,455 (GRCm39) V352A probably benign Het
Cacna1i T C 15: 80,259,540 (GRCm39) L1270P probably damaging Het
Ccdc80 T A 16: 44,947,792 (GRCm39) H923Q probably damaging Het
Cdc27 G A 11: 104,406,286 (GRCm39) H610Y probably damaging Het
Cep126 T C 9: 8,101,791 (GRCm39) I248V probably benign Het
Ces5a T C 8: 94,257,430 (GRCm39) N125S probably damaging Het
Chd3 G A 11: 69,254,510 (GRCm39) H201Y probably benign Het
Cpeb1 T C 7: 81,007,152 (GRCm39) T292A probably damaging Het
Gli2 G A 1: 118,763,558 (GRCm39) T1531I probably damaging Het
Gm6871 T C 7: 41,197,185 (GRCm39) T7A Het
Kank1 A G 19: 25,388,163 (GRCm39) D612G possibly damaging Het
Lhcgr AT ATT 17: 89,049,677 (GRCm39) 615 probably null Het
Mfsd6 T A 1: 52,747,800 (GRCm39) D355V probably benign Het
Myo7a T C 7: 97,712,846 (GRCm39) K1710E probably benign Het
Or13d1 C G 4: 52,970,788 (GRCm39) H56D probably damaging Het
Or52ae7 A G 7: 103,119,459 (GRCm39) D71G probably damaging Het
Pcdha8 G A 18: 37,126,264 (GRCm39) V249M probably damaging Het
Pglyrp3 A G 3: 91,933,790 (GRCm39) D145G probably benign Het
Pkhd1l1 A G 15: 44,410,055 (GRCm39) K2521E possibly damaging Het
Plxnb1 A T 9: 108,941,146 (GRCm39) T1642S probably damaging Het
Ppp2r1a T G 17: 21,179,700 (GRCm39) V348G possibly damaging Het
Prdm2 C A 4: 142,859,303 (GRCm39) C1329F possibly damaging Het
Ric8a G T 7: 140,441,269 (GRCm39) G423V probably damaging Het
Rnf17 A G 14: 56,658,593 (GRCm39) D94G probably benign Het
Serpina3f T C 12: 104,185,769 (GRCm39) F325L probably damaging Het
Sin3a T A 9: 57,034,568 (GRCm39) V1247E possibly damaging Het
Skint5 C A 4: 113,798,087 (GRCm39) M165I probably benign Het
Slc19a3 T G 1: 83,000,216 (GRCm39) Y267S probably damaging Het
Slc22a27 A T 19: 7,887,390 (GRCm39) F196Y possibly damaging Het
Slc5a4b A T 10: 75,939,680 (GRCm39) I152N possibly damaging Het
Tbc1d9 T A 8: 83,982,519 (GRCm39) V768E probably damaging Het
Tex15 T A 8: 34,063,534 (GRCm39) M988K probably benign Het
Top2b T A 14: 16,393,291 (GRCm38) F317I probably damaging Het
Wfdc8 A T 2: 164,439,455 (GRCm39) L309* probably null Het
Wipf1 G A 2: 73,267,879 (GRCm39) P173L possibly damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp949 C T 9: 88,452,053 (GRCm39) T541I probably benign Het
Zkscan16 T A 4: 58,952,407 (GRCm39) I235N probably benign Het
Other mutations in Pld3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01474:Pld3 APN 7 27,232,044 (GRCm39) missense probably damaging 1.00
R0624:Pld3 UTSW 7 27,239,000 (GRCm39) missense possibly damaging 0.94
R1384:Pld3 UTSW 7 27,237,082 (GRCm39) missense probably benign 0.00
R1845:Pld3 UTSW 7 27,238,877 (GRCm39) missense probably benign 0.01
R2235:Pld3 UTSW 7 27,240,532 (GRCm39) missense probably benign 0.00
R3106:Pld3 UTSW 7 27,235,212 (GRCm39) critical splice donor site probably null
R5141:Pld3 UTSW 7 27,233,220 (GRCm39) missense probably damaging 1.00
R5486:Pld3 UTSW 7 27,233,156 (GRCm39) missense probably damaging 0.99
R5518:Pld3 UTSW 7 27,231,796 (GRCm39) missense probably damaging 1.00
R5868:Pld3 UTSW 7 27,237,093 (GRCm39) missense probably benign 0.00
R6446:Pld3 UTSW 7 27,237,156 (GRCm39) missense probably damaging 1.00
R6591:Pld3 UTSW 7 27,231,741 (GRCm39) missense probably benign 0.00
R6691:Pld3 UTSW 7 27,231,741 (GRCm39) missense probably benign 0.00
R6823:Pld3 UTSW 7 27,235,322 (GRCm39) missense probably damaging 1.00
R7162:Pld3 UTSW 7 27,231,899 (GRCm39) missense probably damaging 1.00
R8725:Pld3 UTSW 7 27,239,079 (GRCm39) nonsense probably null
R8795:Pld3 UTSW 7 27,235,286 (GRCm39) missense possibly damaging 0.52
R9049:Pld3 UTSW 7 27,235,293 (GRCm39) missense possibly damaging 0.71
R9096:Pld3 UTSW 7 27,232,089 (GRCm39) missense probably benign 0.08
R9292:Pld3 UTSW 7 27,238,879 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AGACCAGTTGGAGGTTCCTG -3'
(R):5'- GCGAATAAGAGCCGTTGCAG -3'

Sequencing Primer
(F):5'- TTCCTGGGAGCAAGGGG -3'
(R):5'- TTGCAGCAGGTCTGGATCCTC -3'
Posted On 2020-06-30